ClinVar Miner

List of variants in gene KANSL1 reported as uncertain significance for Koolen de Vries syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_44108822)_(44128090_?)dup
NC_000017.11:g.(?_46031456)_(46067687_?)dup
NM_001193466.2(KANSL1):c.1021C>T (p.Arg341Trp) rs373918467
NM_001193466.2(KANSL1):c.103G>A (p.Glu35Lys) rs369793673
NM_001193466.2(KANSL1):c.1042C>G (p.Arg348Gly)
NM_001193466.2(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_001193466.2(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.2(KANSL1):c.1118G>C (p.Ser373Thr) rs747621748
NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.2(KANSL1):c.1126A>G (p.Ile376Val) rs754713192
NM_001193466.2(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_001193466.2(KANSL1):c.1141G>C (p.Glu381Gln) rs779968528
NM_001193466.2(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_001193466.2(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_001193466.2(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_001193466.2(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.2(KANSL1):c.118G>A (p.Ala40Thr) rs376632173
NM_001193466.2(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.2(KANSL1):c.1256C>G (p.Thr419Ser) rs1597870423
NM_001193466.2(KANSL1):c.1270G>A (p.Glu424Lys) rs780942888
NM_001193466.2(KANSL1):c.1276C>T (p.Arg426Cys) rs757224600
NM_001193466.2(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.2(KANSL1):c.1289+3G>A
NM_001193466.2(KANSL1):c.1289+3_1289+5del rs1597870189
NM_001193466.2(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.2(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_001193466.2(KANSL1):c.1564C>T (p.His522Tyr) rs1598530886
NM_001193466.2(KANSL1):c.1568G>C (p.Gly523Ala) rs1568411157
NM_001193466.2(KANSL1):c.1600C>G (p.Leu534Val)
NM_001193466.2(KANSL1):c.1613C>T (p.Ser538Leu) rs142435060
NM_001193466.2(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_001193466.2(KANSL1):c.1648A>G (p.Asn550Asp) rs1555746270
NM_001193466.2(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_001193466.2(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109
NM_001193466.2(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_001193466.2(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_001193466.2(KANSL1):c.181C>A (p.Leu61Ile) rs1567764831
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_001193466.2(KANSL1):c.1864A>G (p.Thr622Ala)
NM_001193466.2(KANSL1):c.1867A>G (p.Ile623Val)
NM_001193466.2(KANSL1):c.1870C>T (p.Arg624Cys) rs368180304
NM_001193466.2(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_001193466.2(KANSL1):c.2095C>T (p.Pro699Ser)
NM_001193466.2(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.2(KANSL1):c.2109A>T (p.Leu703Phe) rs34101027
NM_001193466.2(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419
NM_001193466.2(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_001193466.2(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.2(KANSL1):c.2224C>T (p.Arg742Trp) rs150282556
NM_001193466.2(KANSL1):c.2264G>A (p.Gly755Glu)
NM_001193466.2(KANSL1):c.2377T>A (p.Ser793Thr)
NM_001193466.2(KANSL1):c.2392+3A>T rs1568374384
NM_001193466.2(KANSL1):c.2406C>A (p.His802Gln) rs773681267
NM_001193466.2(KANSL1):c.2417G>A (p.Ser806Asn)
NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.2(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.2(KANSL1):c.2484_2486CTC[1] (p.Ser830del)
NM_001193466.2(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.2(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_001193466.2(KANSL1):c.2510G>T (p.Ser837Ile)
NM_001193466.2(KANSL1):c.2524G>A (p.Val842Ile) rs758243969
NM_001193466.2(KANSL1):c.2677G>A (p.Val893Ile) rs1057523139
NM_001193466.2(KANSL1):c.277A>G (p.Lys93Glu) rs752219095
NM_001193466.2(KANSL1):c.2893T>C (p.Ser965Pro) rs1291308469
NM_001193466.2(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_001193466.2(KANSL1):c.3002C>T (p.Pro1001Leu) rs1037585739
NM_001193466.2(KANSL1):c.301G>A (p.Val101Ile)
NM_001193466.2(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.2(KANSL1):c.3050A>C (p.Asp1017Ala) rs1568365844
NM_001193466.2(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_001193466.2(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.2(KANSL1):c.3091-3C>T rs374360315
NM_001193466.2(KANSL1):c.3094G>C (p.Val1032Leu)
NM_001193466.2(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.2(KANSL1):c.3128C>T (p.Ala1043Val) rs1194713411
NM_001193466.2(KANSL1):c.3143C>T (p.Ala1048Val) rs200719065
NM_001193466.2(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347
NM_001193466.2(KANSL1):c.3154G>A (p.Asp1052Asn) rs1037675968
NM_001193466.2(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_001193466.2(KANSL1):c.3184C>T (p.Arg1062Cys)
NM_001193466.2(KANSL1):c.3185G>A (p.Arg1062His) rs768018906
NM_001193466.2(KANSL1):c.3245C>T (p.Ser1082Leu) rs749241540
NM_001193466.2(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_001193466.2(KANSL1):c.3275A>G (p.His1092Arg)
NM_001193466.2(KANSL1):c.388G>A (p.Val130Ile) rs766000368
NM_001193466.2(KANSL1):c.392T>G (p.Leu131Trp) rs1486873707
NM_001193466.2(KANSL1):c.406G>C (p.Glu136Gln)
NM_001193466.2(KANSL1):c.442G>A (p.Ala148Thr)
NM_001193466.2(KANSL1):c.494C>T (p.Ser165Leu)
NM_001193466.2(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.2(KANSL1):c.509A>G (p.His170Arg)
NM_001193466.2(KANSL1):c.531_540del (p.Gly179fs) rs1567763809
NM_001193466.2(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_001193466.2(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_001193466.2(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_001193466.2(KANSL1):c.55C>T (p.Arg19Trp)
NM_001193466.2(KANSL1):c.584G>A (p.Gly195Glu) rs757048501
NM_001193466.2(KANSL1):c.613A>T (p.Met205Leu)
NM_001193466.2(KANSL1):c.619A>G (p.Asn207Asp) rs372601814
NM_001193466.2(KANSL1):c.620A>T (p.Asn207Ile) rs144882998
NM_001193466.2(KANSL1):c.625A>G (p.Thr209Ala) rs1301400639
NM_001193466.2(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_001193466.2(KANSL1):c.658A>C (p.Thr220Pro)
NM_001193466.2(KANSL1):c.680G>T (p.Ser227Ile) rs150345690
NM_001193466.2(KANSL1):c.736A>G (p.Ser246Gly) rs141969887
NM_001193466.2(KANSL1):c.740G>A (p.Arg247Lys)
NM_001193466.2(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.2(KANSL1):c.812C>T (p.Ser271Phe) rs1597872380
NM_001193466.2(KANSL1):c.823T>C (p.Phe275Leu) rs1567762510
NM_001193466.2(KANSL1):c.836A>T (p.Asp279Val) rs1567762446
NM_001193466.2(KANSL1):c.850A>G (p.Ile284Val)
NM_001193466.2(KANSL1):c.869G>A (p.Arg290Gln)
NM_001193466.2(KANSL1):c.881T>C (p.Ile294Thr) rs747048362
NM_001193466.2(KANSL1):c.887G>A (p.Ser296Asn)
NM_001193466.2(KANSL1):c.889C>T (p.Arg297Cys) rs772236084
NM_001193466.2(KANSL1):c.907A>G (p.Lys303Glu) rs1263813959
NM_001193466.2(KANSL1):c.932A>G (p.Lys311Arg) rs1555575305
NM_001193466.2(KANSL1):c.951A>G (p.Ile317Met)
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015443.4(KANSL1):c.166G>A (p.Ala56Thr)
NM_015443.4(KANSL1):c.1848+3C>T
NM_015443.4(KANSL1):c.2021-3C>T
NM_015443.4(KANSL1):c.202A>G (p.Thr68Ala)
NM_015443.4(KANSL1):c.2126C>G (p.Ala709Gly)
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg)
NM_015443.4(KANSL1):c.2724+5T>G
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr)
NM_015443.4(KANSL1):c.2792G>A (p.Arg931Gln)
NM_015443.4(KANSL1):c.3025A>C (p.Thr1009Pro)
NM_015443.4(KANSL1):c.3175C>G (p.Arg1059Gly)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro)
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val)
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala)
NM_015443.4(KANSL1):c.647A>T (p.Asp216Val)
NM_015443.4(KANSL1):c.658A>T (p.Thr220Ser)
NM_015443.4(KANSL1):c.677A>G (p.Asn226Ser)
NM_015443.4(KANSL1):c.695C>A (p.Ser232Tyr)
NM_015443.4(KANSL1):c.709A>G (p.Met237Val)
NM_015443.4(KANSL1):c.898A>G (p.Arg300Gly)
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.